Deafness and congenital structural abnormalities
Gene: CHD7Comment on list classification: Green gene on the Bilateral microtia (Version 1.10), Ear malformations with hearing impairment (Version 0.103) and Familial hemifacial microsomia (Version 0.148) gene panels which were combined to create this panel.Created: 14 Oct 2016, 11:20 a.m.
Comment on list classification: Green on the Bilateral Microtia Version 1.10 panel.Created: 12 Sep 2016, 2:17 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
#214800:CHARGE syndrome [Postnatal growth retardation; Microcephaly; Square face; Malar flattening; Micrognathia; Facial asymmetry; Small ears; Lop ears; Cup-shaped ears; Deafness (sensorineural or mixed sensorineural and conductive); Mondini defect; Hypoplastic semicircular canals; Colobomas (iris, choroid, retina, disc, and optic nerve); Anophthalmia; Microphthalmia; Ptosis; Hypertelorism; Downslanting palpebral fissures; Posterior choanal atresia (membranous and/or bony); Anosmia; Cleft palate; Cleft lip; Tetralogy of Fallot; Atrial septal defect; Ventricular septal defect; Double-outlet right ventricle; Patent ductus arteriosus; Pulmonary valve stenosis; Rib anomalies; Umbilical hernia; Omphalocele; Tracheoesophageal fistula; Esophageal atresia; Duodenal atresia; Anal atresia; Anal stenosis; Poor feeding; Chewing/swallowing difficulties; Delayed pubertal development; Micropenis; Hypoplastic labia; Cryptorchidism; Horseshoe kidney; Hydronephrosis; Monodactyly (some); Ulnar hypoplasia (some); Tibial aplasia (some); Bifid femur (some); Radial aplasia (reported in 1 patient); Mental retardation, variable severity; Intellectual function may be high in milder cases; Balance disturbances; Facial palsy; Dysphagia; Cranial nerve anomalies; Autistic features; Growth hormone deficiency; Parathyroid hypoplasia; Gonadotropin deficiency; Hypothyroidism; Thymic hypoplasia or aplasia; T cell defect, mild to severe; Lymphopenia; Humoral defect (in some); Hypocalcemia]; #612370:Hypogonadotropic hypogonadism 5 with or without anosmia [; <omim version=1.0>; <clinicalSynopsisList>]
Publications
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
CHARGE syndrome
Variants in this GENE are reported as part of current diagnostic practice
26th Oct 2016: the panels Bilateral microtia version 1.10, Ear malformations with hearing impairment version 0.105, and familial hemifacial microsomia version 0.149 gene panels were combined to create this panel. The panel was revised due to expert review, further curation of evidence and internal clinical evaluation. Ready for promotion to version 1.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Publications for CHD7 were set to 15300250;10718198; 15300250; 16155193; 16169932; 16207732; 16400610; 16763960; 17334995; 17436250; 17661815; 17937444; 18074359; 18472328; 18834967; 18978652; 19279158; 20016488; 20130577; 20453063; 20591827; 21532573; 21554267; 23883829; 24728844; 25119037
CHD7 was added to Deafness and congenital structural abnormalitiespanel. Source: UKGTN CHD7 was added to Deafness and congenital structural abnormalitiespanel. Source: Emory Genetics Laboratory CHD7 was added to Deafness and congenital structural abnormalitiespanel. Source: Radboud University Medical Center, Nijmegen CHD7 was added to Deafness and congenital structural abnormalitiespanel. Source: Illumina TruGenome Clinical Sequencing Services CHD7 was added to Deafness and congenital structural abnormalitiespanel. Source: Eligibility statement prior genetic testing
CHD7 was created by sleigh
CHD7 was added to Deafness and congenital structural abnormalitiespanel. Sources: Expert list,Expert Review Green